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Gene

ACTG1

actin gamma 1

Summary

Cytogenetic location
17q25.3
Coordinates
Chromosome 17: 81,509,971–81,512,799 (GRCh38)
Exons
6 exons across 2.8 kb
Protein
375 amino acids
Inheritance
Autosomal dominant
Previous symbols
ACTG, DFNA20, DFNA26
MANE Select transcript
ENST00000573283.7NM_001614.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 2 GenCC submitters rate it definitive or strong
    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ACTG1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where ACTG1 sits. ACTG1 and 36 genes near it on chromosome 17, from 81,011,385 to 82,011,384.Chromosome 1717q25.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.381.2 Mb81.4 Mb81.6 Mb81.8 Mb82 MbCHMP6: 80,991,598–81,031,356, forward strandCHMP6BAIAP2: 81,035,122–81,117,434, forward strandBAIAP2LMTK1: 81,110,487–81,166,228, reverse strandLMTK1PVALEF: 81,165,507–81,183,166, forward strandPVALEFCEP131: 81,189,583–81,223,014, reverse strandCEP131TEPSIN: 81,228,277–81,239,095, reverse strandTEPSINNDUFAF8: 81,239,305–81,241,310, forward strandNDUFAF8SLC38A10: 81,244,811–81,295,567, reverse strandSLC38A10BAHCC1: 81,395,450–81,466,331, forward strandBAHCC1ACTG1: 81,509,971–81,512,799, reverse strandACTG1FSCN2: 81,528,372–81,542,415, forward strandFSCN2FAAP100: 81,539,885–81,553,961, reverse strandFAAP100NPLOC4: 81,556,887–81,648,465, reverse strandNPLOC4TSPAN10: 81,637,171–81,648,754, forward strandTSPAN10PDE6G: 81,650,459–81,663,112, reverse strandPDE6GOXLD1: 81,665,033–81,666,635, reverse strandOXLD1CCDC137: 81,666,698–81,673,904, forward strandARL16: 81,681,160–81,683,797, reverse strandHGS: 81,683,326–81,703,138, forward strandMRPL12: 81,703,357–81,711,112, forward strand: 81,703,371–81,720,539, forward strandSLC25A10: 81,711,951–81,721,969, forward strandGCGR: 81,803,105–81,814,023, forward strandGCGRMCRIP1: 81,821,790–81,833,302, reverse strandMCRIP1PPP1R27: 81,833,488–81,835,056, reverse strandPPP1R27P4HB: 81,843,158–81,860,856, reverse strandP4HBARHGDIA: 81,867,719–81,871,378, reverse strandARHGDIAALYREF: 81,887,830–81,891,835, reverse strandALYREFANAPC11: 81,890,669–81,900,991, forward strandNPB: 81,900,745–81,902,905, forward strandNPBPCYT2: 81,900,958–81,911,507, reverse strandSIRT7: 81,911,939–81,921,323, reverse strandMAFG: 81,918,270–81,927,769, reverse strandPYCR1: 81,932,378–81,942,412, reverse strandPYCR1MYADML2: 81,939,645–81,947,233, reverse strandNOTUM: 81,952,507–81,963,328, reverse strandNOTUMASPSCR1: 81,976,807–82,018,698, forward strandASPSCR1Diagram of ACTG1: 6 exons on the reverse strand of chromosome 17Exon 6: 5 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 27 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 6: 81,509,971–81,510,833, 863 basesExon 5: 81,510,927–81,511,108, 182 basesExon 4: 81,511,188–81,511,626, 439 basesExon 3: 81,511,903–81,512,142, 240 basesExon 2: 81,512,232–81,512,360, 129 basesExon 1: 81,512,734–81,512,799, 66 bases6543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 2.8 kb; 1,128 of those bases code for the protein.

How a genome test reads ACTG1

45

positions in ACTG1 where ClinVar classes a change as pathogenic or likely pathogenic

45 of them (100%) fall in regions short reads find hard.

  • Segmental duplications (45 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 2.8 kb of ACTG1, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ACTG1 gene: actin gamma 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/actg1

Vancouver

Dante Labs. ACTG1 gene: actin gamma 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/actg1

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